10 Jun 2013, 7:05 am
Hi, everyone. Been awhile since I've been back here. Lots of faces I don't recognize.
Anywho, for those who have no idea who in the hades I am 
I'm an aspie who's gone into research, specifically autism research. At the moment I've been focusing on genetics, particularly in an attempt to characterize commonalities for high-risk autism genes. And our preliminary study has just been published this month and I thought, since it's about autism, the WP community might find it interesting.
I keep a blog and have written about it there, which may be more in depth/explanatory than the original brief report (which is also linked in the blog):
http://scienceoveracuppa.com/2013/06/09 ... omment-335
If anybody has any questions or anything, feel free to give a shout out.
10 Jun 2013, 8:45 am
10 Jun 2013, 9:28 am
Hey, whirlingmind. Thanks very much for the feedback. It's nice to know that my attempts at simplification (while not sacrificing accuracy) were successful. The more details one knows about a given topic, the harder it gets to communicate that information to people who don't have the same in depth understanding. It's a definite challenge.
Regarding genes for Bipolar, sz, and Tourette's, I wouldn't be surprised if there's overlap with the genes we studied, so you may well have markers for that too. One thing I've learned while studying these numerous genes is that there's a LOT of overlap between different common neurodevelopmental conditions as far as genetics-- and actually even quite a bit of overlap with those and cancer-related genes.
10 Jun 2013, 9:50 am
10 Jun 2013, 9:55 am
10 Jun 2013, 9:55 am
This may be off-topic from the work you're doing but....since you are working specifically with extinct gene sequences, have you considered contacting the Max Planck institute to see if you can compare modern samples with the much older samples (all the way back to paleolithic times) they might have? A cross comparison between modern and ancient human populations might pop out something interesting.
Thanks.
I suspect as scientists take more advantage of the internet and blogging (which is a growing trend) you may find exactly that: science communicated in a more accessible sense.
On that note, I have been wanting to take a look at the Neandertal genome that's been made available. Although we would need to utilize some different transposable element algorithms for that since TE info on that genome hasn't been made available.
I would expect, though, that the majority of sequences would be conserved (give or take various CNVs and repeat expansions/contractions) because the vast majority of mobile elements in our genome have been extinct for a very long time in human terms. Only a handful of sub-subcategories of retrotransposons have been active in us over the last couple million years, so the trends we see in gene mutability are VERY old. Although we do get the occasional new retrovirus.
Nevertheless, it would still be really fascinating to study. And I'll definitely keep your suggestion in mind. That could be an excellent project in future. Thanks!
10 Jun 2013, 6:39 pm
Neanderthal would be a bit far fetched since they were a separate species though the info from them could also be interesting. We did interbreed with them at least.
I was thinking more of cromagnon dna the max planck institute is sure to have many samples of.
I almost got involved in a project in Australia that was doing a project on neanderthal dna but since it was my freshman year I simply did not have the time or funds to be a part of it. 
. I'll check on it and see if its still running and maybe can provide you with his contact info.
10 Jun 2013, 8:00 pm
Verdandi
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Joined: 7 Dec 2010
Age:45
Posts: 12,564
Location: University of California Sunnydale (fictional location - Real location Olympia, WA)
10 Jun 2013, 8:21 pm
11 Jun 2013, 8:50 am
Another member (Ettina) did some research on which genes are applicable to autism and kindly provided me a list, here are my results against the list she gave me:
.......
Which apparently means I am:
homozygous for the non-autistic allele for 17 SNPs
heterozygous for 23 SNPs, and
homozygous for the autistic allele for 32 SNPs
...although I have no clue what that actually means!
You might enjoy wandering around the AutismKB database and looking through their core dataset.
I was thinking more of cromagnon dna the max planck institute is sure to have many samples of.
I almost got involved in a project in Australia that was doing a project on neanderthal dna but since it was my freshman year I simply did not have the time or funds to be a part of it. Sad . I'll check on it and see if its still running and maybe can provide you with his contact info.
I would certainly be interested in Cro-magnon as well. I had mentioned Neandertal though because the genome has been made readily available, making it easier to work with. Annotations make a big difference!
Sorry about that. You can PM me your email address and I can send copies both of the blog and the original article if you like. Or just email me directly at elwill08 at louisville dot edu.
Just let me know if any other resummarizing or reframing might be helpful once your brain is less rebellious.
11 Jun 2013, 8:53 am
11 Jun 2013, 9:00 am
11 Jun 2013, 9:08 am
Another member (Ettina) did some research on which genes are applicable to autism and kindly provided me a list, here are my results against the list she gave me:
.......
Which apparently means I am:
homozygous for the non-autistic allele for 17 SNPs
heterozygous for 23 SNPs, and
homozygous for the autistic allele for 32 SNPs
...although I have no clue what that actually means!
You might enjoy wandering around the AutismKB database and looking through their core dataset.
Oooh, thank you! that gives me a nice little project
.
11 Jun 2013, 12:05 pm
Another member (Ettina) did some research on which genes are applicable to autism and kindly provided me a list, here are my results against the list she gave me:
.......
Which apparently means I am:
homozygous for the non-autistic allele for 17 SNPs
heterozygous for 23 SNPs, and
homozygous for the autistic allele for 32 SNPs
...although I have no clue what that actually means!
You might enjoy wandering around the AutismKB database and looking through their core dataset.
Oooh, thank you! that gives me a nice little project
.Our next study which we're currently working on is involving this core dataset. The one previously had some overlap but included a larger sampling from the website, since the core set was too comparably small to get good statistical power. At present we're looking further into other aspects of genomic stability to characterize these genes. The preliminary work is promising!
11 Jun 2013, 1:05 pm
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